Chromosome 11 (human)
right Chromosome 11 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 134.5 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. It is one of the most gene- and disease-rich chromosomes in the human genome. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 11 likely contains between 1,300 and 1,700 genes. A recent study shows that 11.6 genes per megabase, including 1,524 protein-coding genes and 765 pseudogenes can be found on chromosome 11. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single- and multi-gene clusters along this chromosome. Genetic linkage studies have been carried out by Hodgkinson et al (2002) investigating mutations affecting the tyrosine hydroxylase (TH) gene which encodes the rate-limiting enzyme for the synthesis of three neurotransmitters, adrenaline, noradrenaline and dopamine; the variable portion of the Harvey-ras-1 HRAS110 locus and the variable region of the insulin gene (INS)11. All three markers are closely linked on chromosome 11 and might therefore be responsible for causing the bipolar disorder phenotype. Genes The following are some of the genes located on chromosome 11: * ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) * ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D) * CPT1A: carnitine palmitoyltransferase 1A (liver) * DHCR7: 7-dehydrocholesterol reductase * HBB: hemoglobin, beta * HMBS: hydroxymethylbilane synthase * HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog * KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1 (mutation leads to sudden death) * MEN1: multiple endocrine neoplasia I * MTMR2: myotubularin related protein 2 * MYO7A: myosin VIIA * PAX6 * PTS: 6-pyruvoyltetrahydropterin synthase * SAA1: serum amyloid A1 * SBF2: SET binding factor 2 * SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) * TECTA: tectorin alpha (nonsyndromic deafness) * USH1C: Usher syndrome 1C (autosomal recessive, severe) Diseases The following diseases are some of those related to genes on chromosome 11: * aniridia * acute intermittent porphyria * ataxia-telangiectasia * beta-ketothiolase deficiency * beta thalassemia * bladder cancer * breast cancer * carnitine palmitoyltransferase I deficiency * Charcot-Marie-Tooth disease * Charcot-Marie-Tooth disease, type 4 * familial Mediterranean fever * Jacobsen syndrome * Jervell and Lange-Nielsen syndrome * Meckel syndrome * methemoglobinemia, beta-globin type * multiple endocrine neoplasia type 1 * Niemann-Pick disease * nonsyndromic deafness * nonsyndromic deafness, autosomal dominant * nonsyndromic deafness, autosomal recessive * porphyria * Romano-Ward syndrome * sickle cell anemia * Smith-Lemli-Opitz syndrome * tetrahydrobiopterin deficiency * Usher syndrome * Usher syndrome type I * WAGR syndrome References * *Hodgkinson,S., Sherrington,R., Gurling,H., Marchbanks,R., Reeders,S., Mallet,J., Mclnnis,M., Petursson,H. & Brynjolfsson,J.(2002); Molecular genetic evidence for heterogeneity in manic depression.Nature 325, 805 -806 doi:10.1038/325805a0 Category:Human Chromosome 11 :fr:Chromosome 11 humain :hu:Humán 11-es kromoszóma :pt:Cromossoma 11 (humano) :sr:Хромозом 11 (човек) :tr:kromozom 11